DISPORD

DISPORD

ENDOCRINOLOGY, GENETICS

DefinitionA rare variant (OMIM:613571) of congenital adrenal hyperplasia, with combined P450C17 and P450C21 deficiency and accumulation of steroid metabolites. Affected girls are born with ambiguous genitalia, with low circulating androgens and non-progressing virilisation. Affected boys may be undermasculinised. Boys and girls can present with bone malformations.

Molecular pathology Defects of POR, which encodes an oxidoreductase required for electron transfer from NADP to cytochrome P450 in microsomes, cause DISPORD.